Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231192 | SCV000289862 | benign | 46,XY sex reversal 9 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430790 | SCV004158336 | benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | ZFPM2: BS1, BS2 |
Prevention |
RCV003919971 | SCV004729446 | likely benign | ZFPM2-related condition | 2019-09-10 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Reproductive Development, |
RCV001007699 | SCV001146896 | benign | 46,XY sex reversal 3 | 2019-08-26 | no assertion criteria provided | research |